ClinVar Miner

Variants from Kariminejad - Najmabadi Pathology & Genetics Center

Location: Iran, Islamic Republic of — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
14 18 16 0 0 48

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TGM1 2 0 0 2
ARID1B 0 0 1 1
ATM 1 0 0 1
BAG3 0 1 0 1
BBS12 0 0 1 1
CACNA1A 0 0 1 1
CAPN3 1 0 0 1
CERT1, POLK 0 0 1 1
CLCN1 0 0 1 1
COL1A2 0 1 0 1
COL6A2 0 0 1 1
COLQ 0 1 0 1
DMD 1 0 0 1
DNA2 0 0 1 1
DOK7 0 0 1 1
DYNC1H1 0 1 0 1
EXOSC2 0 0 1 1
EXOSC3 1 0 0 1
FBN2 0 0 1 1
GAREM2, HADHA 0 1 0 1
GFPT1 1 0 0 1
GIPC3 0 0 1 1
GLI3 1 0 0 1
GMPPB 1 0 0 1
HACE1 0 1 0 1
HSD17B4 0 1 0 1
ITPR1 0 1 0 1
KRT17 0 1 0 1
LMNA 0 1 0 1
MYH14 0 0 1 1
MYH2, MYHAS 0 0 1 1
NEFL 0 1 0 1
NF1 1 0 0 1
PDE6B 0 1 0 1
PIEZO2 0 0 1 1
PIGG 0 1 0 1
RAB3GAP2 0 1 0 1
RBM10 0 1 0 1
RYR1 0 1 0 1
SETBP1 0 1 0 1
SETX 1 0 0 1
SGCA 1 0 0 1
SZT2 0 0 1 1
TANGO2 0 1 0 1
TPP1 1 0 0 1
TTN 0 0 1 1
TYR 1 0 0 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance total
not provided 2 3 0 5
Congenital myasthenic syndrome 2 1 1 4
Neurodevelopmental delay 1 1 2 4
Cerebellar ataxia 2 0 1 3
Muscular dystrophy 1 1 1 3
Charcot-Marie-Tooth disease 0 1 1 2
Congenital myopathy 0 0 2 2
Ichthyosis 2 0 0 2
Albinism 1 0 0 1
Bardet-Biedl syndrome 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1f 0 1 0 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital muscular dystrophy 0 0 1 1
Developmental regression 1 0 0 1
Intellectual disability 0 1 0 1
Microcephaly; Intellectual disability 0 1 0 1
Microcephaly; Spastic paraparesis; Neurodevelopmental abnormality 0 0 1 1
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 1 0 1
Muscle weakness 0 1 0 1
Muscular Diseases 0 0 1 1
Muscular hypotonia 1 0 0 1
Myotonia 0 0 1 1
Neurodegeneration 0 1 0 1
Neurofibromas 1 0 0 1
Pachyonychia congenita syndrome 0 1 0 1
Pallister-Hall syndrome 1 0 0 1
Psychomotor retardation 0 1 0 1
Rod-cone dystrophy 0 1 0 1
Seizures 0 1 0 1
Sensorineural hearing loss 0 0 1 1
Spinal muscular atrophy 0 1 0 1
not specified 0 0 1 1

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